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What are the signs and symptoms of Osteogenesis imperfecta type 6?

Osteogenesis imperfecta type VI is a moderate to severe form of osteogenesis imperfecta that affects the bones but is distinctive in the bone characteristics at a microscopic level (histology). People with this condition have bones that are thin (osteopenia) and break easily beginning after 6 months of age. A defect in how the bone uses minerals to build and strengthen bone (mineralization) causes a distinct "fish-scale" pattern. Unlike other types of osteogenesis imperfecta, the whites of the eyes (sclerae) and teeth do not appear to be affected.[1][2]

Last updated: 4/5/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type 6.
If the information is available, the table below includes how often the symptom is seen in people with this condition.
You can use the MedlinePlus Medical Dictionary to look up
the definitions for these medical terms.

Signs and Symptoms

Approximate number of patients (when available)

Abnormality of dental color

90%

Abnormality of dentin

90%

Abnormality of the metaphyses

90%

Abnormality of the ribs

90%

Abnormality of the tibia

90%

Blue sclerae

90%

Carious teeth

90%

Convex nasal ridge

90%

Decreased skull ossification

90%

Gait disturbance

90%

Intrauterine growth retardation

90%

Macrocephaly

90%

Micrognathia

90%

Pectus carinatum

90%

Prominent occiput

90%

Abnormal cortical bone morphology

50%

Abnormal form of the vertebral bodies

50%

Abnormality of the femur

50%

Abnormality of the hip bone

50%

Genu valgum

50%

Glaucoma

50%

Hyperhidrosis

50%

Joint hypermobility

50%

Malformation of the heart and great vessels

50%

Narrow chest

50%

Opacification of the corneal stroma

50%

Reduced bone mineral density

50%

Scoliosis

50%

Slender long bone

50%

Triangular face

50%

Visual impairment

50%

Abnormality of the endocardium

7.5%

Hearing impairment

7.5%

Kyphosis

7.5%

Micromelia

7.5%

Pectus excavatum

7.5%

Recurrent fractures

7.5%

Short stature

7.5%

Subcutaneous hemorrhage

7.5%

Thrombocytopenia

7.5%

Umbilical hernia

7.5%

Visceral angiomatosis

7.5%

Wormian bones

7.5%

Coxa vara

5/8

Abnormality of the skin

-

Autosomal dominant inheritance

-

Autosomal recessive inheritance

-

Biconcave vertebral bodies

-

Brachycephaly

-

Dentinogenesis imperfecta

-

Elevated alkaline phosphatase

-

Increased susceptibility to fractures

-

Joint laxity

-

Kyphoscoliosis

-

Osteopenia

-

Protrusio acetabuli

-

Vertebral compression fractures

-

Vertebral wedging

-

Last updated: 8/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.